539 related articles for article (PubMed ID: 22422207)
1. Mitochondrial syndromes with leukoencephalopathies.
Wong LJ
Semin Neurol; 2012 Feb; 32(1):55-61. PubMed ID: 22422207
[TBL] [Abstract][Full Text] [Related]
2. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
van Berge L; Hamilton EM; Linnankivi T; Uziel G; Steenweg ME; Isohanni P; Wolf NI; Krägeloh-Mann I; Brautaset NJ; Andrews PI; de Jong BA; al Ghamdi M; van Wieringen WN; Tannous BA; Hulleman E; Würdinger T; van Berkel CG; Polder E; Abbink TE; Struys EA; Scheper GC; van der Knaap MS;
Brain; 2014 Apr; 137(Pt 4):1019-29. PubMed ID: 24566671
[TBL] [Abstract][Full Text] [Related]
3. DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis.
Isohanni P; Linnankivi T; Buzkova J; Lönnqvist T; Pihko H; Valanne L; Tienari PJ; Elovaara I; Pirttilä T; Reunanen M; Koivisto K; Marjavaara S; Suomalainen A
J Med Genet; 2010 Jan; 47(1):66-70. PubMed ID: 19592391
[TBL] [Abstract][Full Text] [Related]
4. Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways.
van Berge L; Kevenaar J; Polder E; Gaudry A; Florentz C; Sissler M; van der Knaap MS; Scheper GC
Biochem J; 2013 Mar; 450(2):345-50. PubMed ID: 23216004
[TBL] [Abstract][Full Text] [Related]
5. White matter involvement in mitochondrial diseases.
Lerman-Sagie T; Leshinsky-Silver E; Watemberg N; Luckman Y; Lev D
Mol Genet Metab; 2005 Feb; 84(2):127-36. PubMed ID: 15670718
[TBL] [Abstract][Full Text] [Related]
6. Mitochondrial disease and epilepsy.
Rahman S
Dev Med Child Neurol; 2012 May; 54(5):397-406. PubMed ID: 22283595
[TBL] [Abstract][Full Text] [Related]
7. Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient.
Mierzewska H; van der Knaap MS; Scheper GC; Bekiesinska-Figatowska M; Szczepanik E; Jurkiewicz E
Brain Dev; 2011 Oct; 33(9):713-7. PubMed ID: 21277128
[TBL] [Abstract][Full Text] [Related]
8. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.
Cohen BH; Naviaux RK
Methods; 2010 Aug; 51(4):364-73. PubMed ID: 20558295
[TBL] [Abstract][Full Text] [Related]
9. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
Hirano M; Nishigaki Y; Martí R
Neurologist; 2004 Jan; 10(1):8-17. PubMed ID: 14720311
[TBL] [Abstract][Full Text] [Related]
10. Diseases caused by nuclear genes affecting mtDNA stability.
Suomalainen A; Kaukonen J
Am J Med Genet; 2001; 106(1):53-61. PubMed ID: 11579425
[TBL] [Abstract][Full Text] [Related]
11. Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA.
van Berge L; Dooves S; van Berkel CG; Polder E; van der Knaap MS; Scheper GC
Biochem J; 2012 Feb; 441(3):955-62. PubMed ID: 22023289
[TBL] [Abstract][Full Text] [Related]
12. Mitochondrial dysfunctions in leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL).
Lin TK; Chang YY; Lin HY; Liou CW; Wang PW; Chuang JH; Chen SD; Chuang YC; Huang ST; Hsu TY; Peng CH; Lan MY
PLoS One; 2019; 14(10):e0224173. PubMed ID: 31671122
[TBL] [Abstract][Full Text] [Related]
13. Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.
Van Goethem G; Martin JJ; Van Broeckhoven C
Acta Neurol Belg; 2002 Mar; 102(1):39-42. PubMed ID: 12094562
[TBL] [Abstract][Full Text] [Related]
14. Spinal cord calcification in an early-onset progressive leukoencephalopathy.
Orcesi S; La Piana R; Uggetti C; Tonduti D; Pichiecchio A; Pasin M; Viselner G; Comi GP; Del Bo R; Ronchi D; Bastianello S; Balottin U
J Child Neurol; 2011 Jul; 26(7):876-80. PubMed ID: 21427441
[TBL] [Abstract][Full Text] [Related]
15. The genetics of mitochondrial disease.
Davis RL; Sue CM
Semin Neurol; 2011 Nov; 31(5):519-30. PubMed ID: 22266889
[TBL] [Abstract][Full Text] [Related]
16. Early-onset LBSL: how severe does it get?
Steenweg ME; van Berge L; van Berkel CG; de Coo IF; Temple IK; Brockmann K; Mendonça CI; Vojta S; Kolk A; Peck D; Carr L; Uziel G; Feigenbaum A; Blaser S; Scheper GC; van der Knaap MS
Neuropediatrics; 2012 Dec; 43(6):332-8. PubMed ID: 23065766
[TBL] [Abstract][Full Text] [Related]
17. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
Van Goethem G; Schwartz M; Löfgren A; Dermaut B; Van Broeckhoven C; Vissing J
Eur J Hum Genet; 2003 Jul; 11(7):547-9. PubMed ID: 12825077
[TBL] [Abstract][Full Text] [Related]
18. The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey.
Çavuşoğlu D; Olgaç-Dündar N; Öztekin Ö; Özdemir TR; Arıcan P; Gençpınar P
Turk J Pediatr; 2018; 60(2):216-220x. PubMed ID: 30325133
[TBL] [Abstract][Full Text] [Related]
19. [Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background].
Pronicka E; Piekutowska-Abramczuk D; Pronicki M
Postepy Biochem; 2008; 54(2):161-8. PubMed ID: 18807927
[TBL] [Abstract][Full Text] [Related]
20. Cytochrome c oxidase deficiency.
Shoubridge EA
Am J Med Genet; 2001; 106(1):46-52. PubMed ID: 11579424
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]